SORBS1
Sorbin and SH3 domain containing 1
Gene Information Card
| Symbol | SORBS1 |
|---|---|
| Full Name | sorbin and SH3 domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.1 |
| NCBI Gene ID | 10580 ncbi.nlm.nih.gov/gene/10580 |
| Ensembl ID | ENSG00000120071 |
| UniProt ID | Q9BX66 |
| OMIM ID | 605264 |
| HGNC ID | 11187 |
| Aliases | CAP, SH3D5, SORB1, FLJ12406 |
Description
SORBS1 (sorbin and SH3 domain containing 1) encodes a protein that functions as an adapter in insulin signaling and cytoskeletal organization. It is involved in glucose transporter type 4 (GLUT4) translocation in adipocytes and muscle cells, linking the insulin receptor to the actin cytoskeleton. Alternative splicing generates multiple isoforms with tissue-specific expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Type 2 diabetes | Impaired GLUT4 translocation due to SORBS1 variants reduces insulin sensitivity | ClinVar, OMIM |
| Obesity | SORBS1 polymorphisms associated with body mass index and adipocyte function | NCBI Gene, OMIM |
| Colorectal cancer | SORBS1 expression altered in tumor tissues; potential role in cell adhesion and migration | COSMIC, NCBI Gene |
| Breast cancer | SORBS1 mutations and copy number changes reported in cancer genomes | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.3 | Medium |
| Skeletal muscle | 8.7 | Low |
| Heart | 6.2 | Low |
| Brain | 4.1 | Low |
| Liver | 2.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 5.8 | Cervical cancer cell line |
| HepG2 | 3.2 | Hepatocellular carcinoma |
| MCF7 | 7.1 | Breast cancer cell line |
| A549 | 4.5 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | 0.01% | Reduced insulin-stimulated GLUT4 translocation |
| c.567delA (p.Glu189fs) | Frameshift | 0.002% | Loss of function; associated with insulin resistance |
| c.890G>A (p.Arg297His) | Missense | 0.005% | Altered SH3 domain binding |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants that truncate the protein, impairing adapter function in insulin signaling.
Gain of Function (GOF)
Not well documented; no common gain-of-function variants reported.
Dominant Negative (DN)
Missense variants in SH3 domains may interfere with normal protein interactions, potentially acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • actin cytoskeleton organization | • insulin receptor signaling pathway |
| • protein binding | • SH3 domain binding |
| • cell adhesion | • glucose import |
Pathways
• Insulin signaling pathway (KEGG: hsa04910)
• Regulation of actin cytoskeleton (KEGG: hsa04810)
• GLUT4 translocation (Reactome: R-HSA-1445148)
Protein Summary
The SORBS1 protein (also known as CAP) is a multi-domain adapter containing sorbin homology (SoHo) and three SH3 domains. It localizes to the plasma membrane and actin cytoskeleton, mediating interactions between the insulin receptor and the cytoskeletal protein vinexin. It is essential for insulin-stimulated GLUT4 translocation and glucose uptake in adipocytes and muscle cells. Isoforms vary in tissue distribution and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SORBS1 Knockout HEK293 Cell Line | EDJ-KQ7095 | Human | 10580 | Details Get a Quote |
| SORBS1 Knockout HCT 116 Cell Line | EDJ-KQ31941 | Human | 10580 | Details Get a Quote |
| SORBS1 Knockout HeLa Cell Line | EDJ-KQ55435 | Human | 10580 | Details Get a Quote |
| SORBS1 Knockout A-549 Cell Line | EDJ-KQ63915 | Human | 10580 | Details Get a Quote |
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